TBX1 Chromosome 22
T-box transcription factor 1
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What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000184058
Associated Conditions (9)
DiGeorge syndrome
Cardiovascular phenotype
Tetralogy of Fallot
Conotruncal heart malformations
Velocardiofacial syndrome
TBX1-related disorder
Inborn genetic diseases
Conotruncal anomaly face syndrome
KBG syndrome
Key Variants
RS1009463279
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS1028072654
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS1201666534
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS1219849128
Conflicting classifications of pathogenicity
DiGeorge syndrome, DiGeorge syndrome
Health Risk
RS1445910672
Conflicting classifications of pathogenicity
Tetralogy of Fallot, DiGeorge syndrome, Tetralogy of Fallot
Health Risk
RS144848597
Conflicting classifications of pathogenicity
DiGeorge syndrome, Conotruncal heart malformations, Tetralogy of Fallot
Health Risk
RS1936824289
Conflicting classifications of pathogenicity
DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome
Health Risk
RS201993443
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS2145827836
Conflicting classifications of pathogenicity
DiGeorge syndrome, Tetralogy of Fallot, Velocardiofacial syndrome
Health Risk
RS2145836461
Conflicting classifications of pathogenicity
DiGeorge syndrome, DiGeorge syndrome
Health Risk
RS2145839048
Conflicting classifications of pathogenicity
DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome
Health Risk
RS369050575
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, TBX1-related disorder
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518168 | Health Risk | Pathogenic | — |
| RS1321457390 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS1425319851 | Health Risk | Pathogenic | — |
| RS1555895466 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS1555896474 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569022780 | Health Risk | Pathogenic | — |
| RS1601294188 | Health Risk | Pathogenic | — |
| RS1601294362 | Health Risk | Pathogenic | Conotruncal anomaly face syndrome, Conotruncal anomaly face syndrome |
| RS1936634853 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS1936640897 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS1936760837 | Health Risk | Pathogenic | KBG syndrome, KBG syndrome |
| RS1936852915 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2145827917 | Health Risk | Pathogenic | DiGeorge syndrome, Velocardiofacial syndrome, DiGeorge syndrome |
| RS2145827929 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome, DiGeorge syndrome |
| RS2145835194 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2145836457 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2145838229 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2474263656 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2517841942 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2517842289 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2517855328 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2517855397 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS2517858941 | Health Risk | Pathogenic | Velocardiofacial syndrome, Velocardiofacial syndrome |
| RS28939675 | Health Risk | Pathogenic | Conotruncal anomaly face syndrome, Conotruncal anomaly face syndrome |
| RS74315522 | Health Risk | Pathogenic | Velocardiofacial syndrome, Velocardiofacial syndrome |
| RS776268518 | Health Risk | Pathogenic | DiGeorge syndrome, DiGeorge syndrome |
| RS886042049 | Health Risk | Pathogenic | — |
| RS1731409120 | Health Risk | Pathogenic/Likely pathogenic | DiGeorge syndrome, TBX1-related disorder, DiGeorge syndrome |
| RS1936845711 | Health Risk | Pathogenic/Likely pathogenic | DiGeorge syndrome, DiGeorge syndrome |